进行性神经性腓骨肌萎缩症

进行性神经性腓骨肌萎缩症
(Charcot-Marie-Tooth disease、C-M-T)
进行性神经性腓骨肌萎缩症患者的脚
症状肌肉無力[*]肌肉萎縮[*]高足弓[*]sensory loss[*]反射低下[*]脊椎側彎
类型hereditary motor and sensory neuropathy[*]神經肌肉疾病[*]monogenic disease[*]疾病
病因突变
診斷方法基因檢測neurological diagnostic techniques[*]肌電圖
治療不明[*]物理治療
分类和外部资源
醫學專科神經學
ICD-9-CM356.1
OMIM311860
DiseasesDB5815、​2343
MedlinePlus000727
eMedicine1232386、​315260
Orphanet166
[编辑此条目的维基数据]

进行性神经性腓骨肌萎缩症,即(Charcot-Marie-Tooth disease、C-M-T,又称腓骨肌萎缩症恰克-馬利-杜斯氏症),是以三位最早发现此病的法国研究者的姓氏共同命名的。其主要表现是双腿渐进性无力,患者发病年龄一般在二十到四十岁之间,是一种罕见的遗传疾病。DNA检测问世以前,腓骨肌萎缩症只能通过临床症状诊断,因为无法早期诊断,在医学教科书或者医学刊物中所讨论的病例都是很严重的类型[1]。目前可以通过DNA检测技术进行CMT的早期诊断。一旦检测结果呈阳性,证明有基因缺陷,即使没有表征的症状,也应马上调整自己的生活,而不至于功能透支,引病上身。

参考文献

  1. ^ Krajewski KM, Lewis RA, Fuerst DR; et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain. 2000,. 123 ( Pt 7) (7): 1516–27 [2011-08-06]. PMID 10869062. doi:10.1093/brain/123.7.1516. (原始内容存档于2010-08-19). 

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